Canonical Allele Identifier: CA1120385023
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs2057458301
gnomAD v3: 9-451922-T-TAC
gnomAD v4: 9-451922-T-TAC

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451923_451924insCA , CM000671.2:g.451923_451924insCA GRCh38
NC_000009.11:g.451923_451924insCA , CM000671.1:g.451923_451924insCA GRCh37
NC_000009.10:g.441923_441924insCA NCBI36
NG_017007.1:g.242059_242060insCA , LRG_196:g.242059_242060insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-88_5662-87insCA ENSP00000371766.2:n.5662-88_5662-87insCA
ENST00000683406.1:n.2437-88_2437-87insCA
ENST00000684637.1:n.1643-88_1643-87insCA
ENST00000685949.1:n.4750-88_4750-87insCA
ENST00000432829.7:c.5962-88_5962-87insCA MANE Select ENSP00000394888.3:n.5962-88_5962-87insCA
ENST00000382329.1:c.4363-88_4363-87insCA ENSP00000371766.1:n.4363-88_4363-87insCA
ENST00000432829.6:c.5962-88_5962-87insCA ENSP00000394888.3:n.5962-88_5962-87insCA
ENST00000453981.5:c.5758-88_5758-87insCA ENSP00000408464.2:n.5758-88_5758-87insCA
ENST00000469391.5:c.5662-88_5662-87insCA ENSP00000419438.1:n.5662-88_5662-87insCA
ENST00000495184.5:n.7917-88_7917-87insCA
NM_001190458.1:c.5662-88_5662-87insCA NP_001177387.1:n.5662-88_5662-87insCA
NM_001193536.1:c.5758-88_5758-87insCA NP_001180465.1:n.5758-88_5758-87insCA
NM_203447.3:c.5962-88_5962-87insCA , LRG_196t1:c.5962-88_5962-87insCA NP_982272.2:n.5962-88_5962-87insCA
XM_011518045.1:c.5662-88_5662-87insCA XP_011516347.1:n.5662-88_5662-87insCA
XM_011518046.1:c.5824-88_5824-87insCA XP_011516348.1:n.5824-88_5824-87insCA
XM_011518047.1:c.5758-88_5758-87insCA XP_011516349.1:n.5758-88_5758-87insCA
XM_011518048.1:c.5758-88_5758-87insCA XP_011516350.1:n.5758-88_5758-87insCA
XM_011518049.1:c.4198-88_4198-87insCA XP_011516351.1:n.4198-88_4198-87insCA
XM_011518045.3:c.5662-88_5662-87insCA XP_011516347.1:n.5662-88_5662-87insCA
XM_011518046.2:c.5824-88_5824-87insCA XP_011516348.1:n.5824-88_5824-87insCA
XM_011518047.3:c.5758-88_5758-87insCA XP_011516349.1:n.5758-88_5758-87insCA
XM_011518048.2:c.5758-88_5758-87insCA XP_011516350.1:n.5758-88_5758-87insCA
XM_011518049.2:c.4198-88_4198-87insCA XP_011516351.1:n.4198-88_4198-87insCA
XM_017015173.1:c.5758-88_5758-87insCA XP_016870662.1:n.5758-88_5758-87insCA
XM_017015174.1:c.5824-88_5824-87insCA XP_016870663.1:n.5824-88_5824-87insCA
NM_001190458.2:c.5662-88_5662-87insCA NP_001177387.1:n.5662-88_5662-87insCA
NM_001193536.2:c.5758-88_5758-87insCA NP_001180465.1:n.5758-88_5758-87insCA
NM_203447.4:c.5962-88_5962-87insCA MANE Select NP_982272.2:n.5962-88_5962-87insCA